Centogene AG already has revenues from patient use of its expansive genetic testing portfolio for orphan disease patients – as well as from biopharma partnerships including a deal with rare disease specialist Shire plc. Now, the Rostock, Germany-based start up has secured a €25 million (US$28 million) series A round to expand its presence globally, broaden its biomarker as well as companion and genetic diagnostic offerings, as well as to move into oncogenetics.

It aims to further build upon three business segments: Genetic Testing, Pharmaceutical Collaborations and Big Data Solutions. The former has been driving its revenue growth thus far, but Centogene expects biopharma partners will play a bigger revenue role going forward, particularly with the rapidly shrinking price for genetic testing.

Global, test expansion

Centogene, which was founded in 2005, already has 300 employees and five-year annual compound revenue growth of more than 40 percent that it expects to maintain next year.

In addition to expanding into the U.S., where it doesn't have a presence now, Centogene expects to move into Asia, with a focus on China in particular, as well as the Middle East and Latin America. The Middle East, in particular, has high rates of intermarriage among relatives, which intensifies the effects of genetic disease.

"It's very clear that we need a strong partner on our side to grow faster and penetrate the U.S. market," Centogene founder and CEO Arndt Rolfs told BioWorld MedTech. "We have to be aware that 80 percent of orphan drugs are developed in the U.S." He noted that biopharma and genetic data competitors are increasingly focused on interpretation, rather than data gathering. "The real competition will be Google or Amazon or Apple because they understand that the value of what we're doing comes from interpretation. It's binary code, and now we have to understand how to use it."

A global vision has been integral to Centogene all along; it already has a test portfolio based on more than 3,100 single genes, including 200 panels, as well as whole exome and whole genome testing. These were developed based on analyses of more than 120,000 patient samples across more than 110 countries in an effort to better understand the epidemiology of these hereditary disorders as well as the data connection between genotype and phenotype.

These efforts have led to what Centogene says is the world's largest curated database of genetic mutations involved in rare diseases, its CentoMD.

Rolfs noted that Centogene products are priced anywhere from about €50 up to €2,000, ranging from biomarkers via mass spectrometry on the low-end to exomes and whole genomes on the higher end. Most patients pay for the tests out-of-pocket, he said, noting a conservative attitude toward innovation in the health care system, which only this year started offering reimbursement for next-generation sequencing.

Screening for pharma

Costs to patients for the sorts of tests are continuing to fall rapidly, so Rolfs sees it as essential to position Centogene to work with floundering biopharmas that are still struggling to rationalize drug development and treatment in order to better establish their ongoing business case.

"Pharmaceutical companies have to reposition themselves dramatically in the next 10 years. It will not be sufficient just to offer a product to the markets," observed Rolfs. "Most are going to have a more holistic, service approach; they have to be part of the diagnosis and monitoring of patients. Because, since the majority of the drugs we are talking about are rather expensive, we need more information on why they are starting treatment and what is the proper dosage for the treatments."

Rolfs argues that it's essential for pharmaceutical companies that patients are properly diagnosed, both in studies and in treatment. He cited a study in conjunction with Shire that was published in The Lancet a few years ago on phenotype in Fabry's disease.

"Fabry's disease is not most frequently affecting the kidney and the heart, in reality it is attacking the brain. And, therefore, the most frequent and most frequent phenotype of patients suffering from Fabry's disease is the stroke in the young population, between age 18 and 55. If you are not aware that the patients are suffering most frequently from stroke, but focusing on the heart and on the kidney, you might misdiagnose the patient," noted Rolfs.

He concluded, "So, what we are doing is developing the technologies that makes the screening for these complex hereditary disorders very easy, very stable and very reproducible so it's affordable to test thousands of patients for rare disease and stable for pharmaceutical companies," noting that standard genetic tests for Fabry's cost about €600 to €800, making mass screening unfeasible.

Centogene is also plotting an expansion into the densely populated oncology genetics market, anticipating its rare disease database will give it an edge.

"Many of the rare oncology diseases have a strong genetic foundation. So, we want the company to spread out from classic rare disease indications into oncology," explained Hubert Birner, a managing partner at TVM Capital Life Science.

TVM led the series A round, with participation from DPE Deutsche Private Equity, Careventures and CIC Capital. Birner joined the Centogene board, as did Eric Souetre of Careventures and Guido Prehn of DPE Deutsche Private Equity.

"They have a very conservative, low-cost approach to do these diagnoses. What I really like about it is that the database has great potential to correlate genetic information with clinical symptoms," said Birner. "If a doctor has a patient who presents with strange symptoms and they suspect genetic disease, they send the blood and urine samples to the company plus the clinical exam by the doctor. And then, basically, they match the genetic information to the sample and the information they get from the doctor to give the most precise diagnosis possible."

He summed up, "The hope is that with our networks we can broaden the pharma collaborations that they have. These rare diseases are of growing interest and how do you find these patients?"